Eur J Paediatr Neurol. 2020 Sep, . et al. 0 Cabasson S 10.1016/j.ejpn.2020.06.002 - issue: - volume: - pages: .
Dicky J. J., . et al. 0 Tim; Villard coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of periventricular heterotopia. METHODS:... - issue: - volume: - pages: .
and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., . et al. 0 Inc.;;;;;;Place: United States PMID: 25959266 - issue: - volume: - pages: .
Renieri A, . et al. 0 Villard L Armstrong J Vignoli A - issue: Pini G - volume: Bisgaard AM - pages: Craiu D.
recurrent infections and feeding difficulties. Degenerative features included early regression, . et al. 0 acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia - issue: - volume: - pages: .
Jeroen, . et al. 0 Nicole; Menten Jennifer L.; Grange Laurent; Bottani - issue: Jean-Pierre; Mortier - volume: Geert; Friedman - pages: Michael M.; Gimelli.
10q25.2, . et al. 0 and 8p23.1) in 3 patients born to consanguineous parents - issue: - volume: - pages: .
Eur J Hum Genet. 2020 Dec, . et al. 0 El Waly B 10.1038/s41431-020-0659-z - issue: - volume: - pages: .
Elisabeth, . et al. 0 Jean-Christophe; Franco Christelle; Cornu affecting around one in 10 - issue: Laurent; Blin - volume: Olivier; Micallef - pages: Romain; Attolini.
which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, . et al. 0 the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype genitalia - issue: - volume: - pages: .
severity of epilepsy, . et al. 0 and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software associated with a milder Rett phenotype - issue: - volume: - pages: .